Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex.
10.3760/cma.j.cn511374-20220922-00639
- Author:
Linfei LI
1
;
Shuying LUO
;
Yaodong ZHANG
;
Qing SHANG
;
Wancun ZHANG
;
Xiaoman ZHANG
;
Lei LIU
;
Shiyue MEI
Author Information
1. Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory for Children's Genetics and Metabolic Diseases, Zhengzhou, Henan 450018, China. xiaomay2008@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Infant;
Male;
Family;
Genetic Testing;
Genomics;
Mutation;
Tuberous Sclerosis/genetics*;
Child, Preschool;
East Asian People
- From:
Chinese Journal of Medical Genetics
2023;40(12):1521-1525
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC).
METHODS:Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members.
RESULTS:Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting).
CONCLUSION:This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
